Makita Y - Search Results

1

Axial spondylometaphyseal dysplasia: additional reports.

Suzuki S, Kim OH, Makita Y, Saito T, Lim GY, Cho TJ, Al-Swaid A, Alrasheed S, Sadoon E, Miyazaki O, Nishina S, Superti-Furga A, Unger S, Fujieda K, Ikegawa S, Nishimura G. Suzuki S, et al. Among authors: makita y. Am J Med Genet A. 2011 Oct;155A(10):2521-8. doi: 10.1002/ajmg.a.34192. Epub 2011 Sep 9. Am J Med Genet A. 2011. PMID: 21910225

2

Osteodysplastic primordial dwarfism: a case with features of type II.

Masuno M, Imaizumi K, Nishimura G, Kurosawa K, Makita Y, Shimazaki Y, Kuroki Y. Masuno M, et al. Among authors: makita y. Clin Dysmorphol. 1995 Jan;4(1):57-62. Clin Dysmorphol. 1995. PMID: 7735506 Review.

3

SPONASTRIME dysplasia: report on a female patient with severe skeletal changes.

Masuno M, Nishimura G, Adachi M, Hotsubo T, Tachibana K, Makita Y, Imaizumi K, Kuroki Y. Masuno M, et al. Among authors: makita y. Am J Med Genet. 1996 Dec 30;66(4):429-32. doi: 10.1002/(SICI)1096-8628(19961230)66:4<429::AID-AJMG8>3.0.CO;2-F. Am J Med Genet. 1996. PMID: 8989461

4

Genetic mapping of the Camurati-Engelmann disease locus to chromosome 19q13.1-q13.3.

Ghadami M, Makita Y, Yoshida K, Nishimura G, Fukushima Y, Wakui K, Ikegawa S, Yamada K, Kondo S, Niikawa N, Tomita Ha. Ghadami M, et al. Among authors: makita y. Am J Hum Genet. 2000 Jan;66(1):143-7. doi: 10.1086/302728. Am J Hum Genet. 2000. PMID: 10631145 Free PMC article.

5

Intrafamilial phenotypic variability in Engelmann disease (ED): are ED and Ribbing disease the same entity?

Makita Y, Nishimura G, Ikegawa S, Ishii T, Ito Y, Okuno A. Makita Y, et al. Am J Med Genet. 2000 Mar 13;91(2):153-6. doi: 10.1002/(sici)1096-8628(20000313)91:2<153::aid-ajmg15>3.0.co;2-u. Am J Med Genet. 2000. PMID: 10748417

6

Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.

Kinoshita A, Saito T, Tomita H, Makita Y, Yoshida K, Ghadami M, Yamada K, Kondo S, Ikegawa S, Nishimura G, Fukushima Y, Nakagomi T, Saito H, Sugimoto T, Kamegaya M, Hisa K, Murray JC, Taniguchi N, Niikawa N, Yoshiura K. Kinoshita A, et al. Among authors: makita y. Nat Genet. 2000 Sep;26(1):19-20. doi: 10.1038/79128. Nat Genet. 2000. PMID: 10973241

7

Camurati-Engelmann disease type II: progressive diaphyseal dysplasia with striations of the bones.

Nishimura G, Nishimura H, Tanaka Y, Makita Y, Ikegawa S, Ghadami M, Kinoshita A, Niikawa N. Nishimura G, et al. Among authors: makita y. Am J Med Genet. 2002 Jan 1;107(1):5-11. doi: 10.1002/ajmg.10079. Am J Med Genet. 2002. PMID: 11807860

8

Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type.

Nishimura G, Nakashima E, Mabuchi A, Shimamoto K, Shimamoto T, Shimao Y, Nagai T, Yamaguchi T, Kosaki R, Ohashi H, Makita Y, Ikegawa S. Nishimura G, et al. Among authors: makita y. J Med Genet. 2004 Jan;41(1):75-9. doi: 10.1136/jmg.2003.013722. J Med Genet. 2004. PMID: 14729840 Free PMC article. No abstract available.

9

Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome.

Nakashima E, Mabuchi A, Makita Y, Masuno M, Ohashi H, Nishimura G, Ikegawa S. Nakashima E, et al. Among authors: makita y. Hum Genet. 2004 Mar;114(4):345-8. doi: 10.1007/s00439-004-1081-2. Epub 2004 Jan 29. Hum Genet. 2004. PMID: 14749921

10

Spine and rib abnormalities and stature in spondylocostal dysostosis.

Takikawa K, Haga N, Maruyama T, Nakatomi A, Kondoh T, Makita Y, Hata A, Kawabata H, Ikegawa S. Takikawa K, et al. Among authors: makita y. Spine (Phila Pa 1976). 2006 Apr 1;31(7):E192-7. doi: 10.1097/01.brs.0000208166.61618.8f. Spine (Phila Pa 1976). 2006. PMID: 16582839

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